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Article

Protein C deficiency caused by homozygosity for a novel PROC D180G mutation--in vitro expression and structural analysis of the mutation.

Thrombosis and haemostasis - 1 Oct 2002

Lind Bent, Gedde-Dahl Tobias, Tjønnfjord Geir, Villoutreix Bruno O, Brosstad Frank

Abstract excerpt

Homozygosity for a novel D180G mutation in the protease domain of protein C, associated with plasma protein C activity and antigen levels of 8% of normal was identified in a thrombosis prone family. Transient expression of protein C in HK-293 cells and analysis of protein C antigen in culture media and cell lysates showed that the secretion of mutant protein as compared with wild-type protein was reduced by 79%...

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PMID: 12362235

Genes

PROC

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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